A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129307



Internal ID18925908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137721162..137721237hg38UCSC Ensembl
Outerchr9:140615614..140615689hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962740
SamplesKWS1
Known GenesEHMT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129307
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer